Linked Data
ClinVar Variation Id:
2163389
ClinVar RCV Id:
RCV003073266
dbSNP Id:
rs1179500232
gnomAD v2:
12-121434196-C-G
gnomAD v3:
12-120996393-C-G
gnomAD v4:
12-120996393-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.120996393C>G , CM000674.2:g.120996393C>G | GRCh38 |
| NC_000012.11:g.121434196C>G , CM000674.1:g.121434196C>G | GRCh37 |
| NC_000012.10:g.119918579C>G | NCBI36 |
| NG_011731.2:g.22648C>G , LRG_522:g.22648C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000560968.6:c.761C>G | ENSP00000453965.2:p.Ala254Gly | |
| ENST00000257555.11:c.1087C>G MANE Select | ENSP00000257555.5:p.Leu363Val | |
| ENST00000257555.10:c.1087C>G | ENSP00000257555.4:p.Leu363Val | |
| ENST00000400024.6:c.1087C>G | ENSP00000476181.1:p.Leu363Val | |
| ENST00000402929.5:n.1222C>G | ||
| ENST00000535955.5:n.43-1098C>G | ||
| ENST00000538626.2:n.191-1098C>G | ||
| ENST00000538646.5:c.*63C>G | ENSP00000443964.1:n.*63C>G | |
| ENST00000540108.1:c.*527C>G | ENSP00000445445.1:n.*527C>G | |
| ENST00000541395.5:c.1087C>G | ENSP00000443112.1:p.Leu363Val | |
| ENST00000541924.5:c.*101C>G | ENSP00000440361.1:n.*101C>G | |
| ENST00000543255.1:n.4C>G | ||
| ENST00000543427.5:c.634-211C>G | ENSP00000439721.2:n.634-211C>G | |
| ENST00000544413.2:c.1087C>G | ENSP00000438804.1:p.Leu363Val | |
| ENST00000544574.5:c.73-224C>G | ENSP00000438565.1:n.73-224C>G | |
| ENST00000560968.5:c.904C>G | ||
| ENST00000615446.4:c.-126C>G | ENSP00000483994.1:n.-126C>G | |
| ENST00000617366.4:c.587-1241C>G | ENSP00000481967.1:n.587-1241C>G | |
| NM_000545.5:c.1087C>G , LRG_522t1:c.1087C>G | NP_000536.5:p.Leu363Val | |
| NM_000545.6:c.1087C>G | NP_000536.5:p.Leu363Val | |
| NM_001306179.1:c.1087C>G | NP_001293108.1:p.Leu363Val | |
| XM_005253931.2:c.1087C>G | XP_005253988.1:p.Leu363Val | |
| XM_024449168.1:c.1087C>G | XP_024304936.1:p.Leu363Val | |
| NM_000545.8:c.1087C>G MANE Select | NP_000536.6:p.Leu363Val | |
| NM_001306179.2:c.1087C>G | NP_001293108.2:p.Leu363Val |